ArticleNeurology. Genetics2021
FLNC-Associated Myofibrillar Myopathy: New Clinical, Functional, and Proteomic Data.
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Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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19citing papers in PubMed
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19 citing papers in PubMed, 30 citations in OpenAlex.
- Fractionated proteomics identifies a protein network mitigating resistance exercise-induced damage in human skeletal muscle.Nature communications · 2026Article
- Unveiling FLNC variants: iPSC-derived myogenic cells as a model to study disease mechanisms.Skeletal muscle · 2026Article
- Different Lower Limb Muscle MRI Patterns in Autosomal Dominant Titinopathies.European journal of neurology · 2025Article
- Integrative Approaches to Myopathies and Muscular Dystrophies: Molecular Mechanisms, Diagnostics, and Future Therapies.International journal of molecular sciences · 2025Review
- Proteomic Profiling Towards a Better Understanding of Genetic Based Muscular Diseases: The Current Picture and a Look to the Future.Biomolecules · 2025Review
- Case Report: Simultaneous presentation of end-stage heart failure with cardiogenic shock requiring emergency transplantation in monozygotic twins with myofibrillar myopathy: a previously unknown genetic disease?Frontiers in cardiovascular medicine · 2025Article
- Protein phosphatase-1 regulates the binding of filamin C to FILIP1 in cultured skeletal muscle cells under mechanical stress.Scientific reports · 2024Article
- Reduction of Filamin C Results in Altered Proteostasis, Cardiomyopathy, and Arrhythmias.Journal of the American Heart Association · 2024Article
- TheBiomedicines · 2024Article
- Article
- Bi-allelic variants of FILIP1 cause congenital myopathy, dysmorphism and neurological defects.Brain : a journal of neurology · 2023Article
- Construction of HBV-HCC prognostic model and immune characteristics based on potential genes mining through protein interaction networks.Journal of cancer research and clinical oncology · 2023Article
- Clinical, Genetic, and Histological Characterization of Patients with Rare Neuromuscular and Mitochondrial Diseases Presenting with Different Cardiomyopathy Phenotypes.International journal of molecular sciences · 2023Article
- Article
- Molecular signatures of inherited and acquired sporadic late onset nemaline myopathies.Acta neuropathologica communications · 2023Article
- Rare clinical phenotype of filaminopathy presenting as restrictive cardiomyopathy and myopathy in childhood.Orphanet journal of rare diseases · 2022Article
- Proteomic profiling of sporadic late-onset nemaline myopathy.Annals of clinical and translational neurology · 2022Article
- [Genomics and proteomics in the research of neuromuscular diseases].Der Nervenarzt · 2022Review
- A Window Into the Myofibrillar Myopathy Proteome.Neurology. Genetics · 2021Article
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Authors and funding
17 authors at 1 institution in 3 countries.
Rudolf Andre KleyDepartment of Neurology (R.A.K., H.Z., D.S., A.K.G., F.J., M.V.), Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany; Department of Neurology and Clinical Neurophysiology (R.A.K.), St. Marien-Hospital Borken, Borken, Germany; Department of Molecular Cell Biology (Y.L., Z.O., P.F.M.V., D.O.F.), Institute for Cell Biology, University of Bonn, Bonn, Germany; Department of Neurology (B.S.), DKD HELIOS Klinik Wiesbaden, Wiesbaden, Germany; Department of Structural and Computational Biology (J.K., A.O., K.D.-C.), Max Perutz Laboratories, University of Vienna, Vienna, Austria; Medizinisches Proteom-Center (B.E., K.M.), Ruhr-University Bochum, Bochum, Germany; Institute of Human Genetics (W.K.), University of Würzburg, Würzburg, Germany; and Department of Biochemistry (K.D.-C.), Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.
Yvonne LeberDepartment of Neurology (R.A.K., H.Z., D.S., A.K.G., F.J., M.V.), Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany; Department of Neurology and Clinical Neurophysiology (R.A.K.), St. Marien-Hospital Borken, Borken, Germany; Department of Molecular Cell Biology (Y.L., Z.O., P.F.M.V., D.O.F.), Institute for Cell Biology, University of Bonn, Bonn, Germany; Department of Neurology (B.S.), DKD HELIOS Klinik Wiesbaden, Wiesbaden, Germany; Department of Structural and Computational Biology (J.K., A.O., K.D.-C.), Max Perutz Laboratories, University of Vienna, Vienna, Austria; Medizinisches Proteom-Center (B.E., K.M.), Ruhr-University Bochum, Bochum, Germany; Institute of Human Genetics (W.K.), University of Würzburg, Würzburg, Germany; and Department of Biochemistry (K.D.-C.), Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.
Bertold SchrankDepartment of Neurology (R.A.K., H.Z., D.S., A.K.G., F.J., M.V.), Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany; Department of Neurology and Clinical Neurophysiology (R.A.K.), St. Marien-Hospital Borken, Borken, Germany; Department of Molecular Cell Biology (Y.L., Z.O., P.F.M.V., D.O.F.), Institute for Cell Biology, University of Bonn, Bonn, Germany; Department of Neurology (B.S.), DKD HELIOS Klinik Wiesbaden, Wiesbaden, Germany; Department of Structural and Computational Biology (J.K., A.O., K.D.-C.), Max Perutz Laboratories, University of Vienna, Vienna, Austria; Medizinisches Proteom-Center (B.E., K.M.), Ruhr-University Bochum, Bochum, Germany; Institute of Human Genetics (W.K.), University of Würzburg, Würzburg, Germany; and Department of Biochemistry (K.D.-C.), Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.
Heidi ZhugeDepartment of Neurology (R.A.K., H.Z., D.S., A.K.G., F.J., M.V.), Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany; Department of Neurology and Clinical Neurophysiology (R.A.K.), St. Marien-Hospital Borken, Borken, Germany; Department of Molecular Cell Biology (Y.L., Z.O., P.F.M.V., D.O.F.), Institute for Cell Biology, University of Bonn, Bonn, Germany; Department of Neurology (B.S.), DKD HELIOS Klinik Wiesbaden, Wiesbaden, Germany; Department of Structural and Computational Biology (J.K., A.O., K.D.-C.), Max Perutz Laboratories, University of Vienna, Vienna, Austria; Medizinisches Proteom-Center (B.E., K.M.), Ruhr-University Bochum, Bochum, Germany; Institute of Human Genetics (W.K.), University of Würzburg, Würzburg, Germany; and Department of Biochemistry (K.D.-C.), Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.
Zacharias OrfanosDepartment of Neurology (R.A.K., H.Z., D.S., A.K.G., F.J., M.V.), Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany; Department of Neurology and Clinical Neurophysiology (R.A.K.), St. Marien-Hospital Borken, Borken, Germany; Department of Molecular Cell Biology (Y.L., Z.O., P.F.M.V., D.O.F.), Institute for Cell Biology, University of Bonn, Bonn, Germany; Department of Neurology (B.S.), DKD HELIOS Klinik Wiesbaden, Wiesbaden, Germany; Department of Structural and Computational Biology (J.K., A.O., K.D.-C.), Max Perutz Laboratories, University of Vienna, Vienna, Austria; Medizinisches Proteom-Center (B.E., K.M.), Ruhr-University Bochum, Bochum, Germany; Institute of Human Genetics (W.K.), University of Würzburg, Würzburg, Germany; and Department of Biochemistry (K.D.-C.), Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.
Julius KostanDepartment of Neurology (R.A.K., H.Z., D.S., A.K.G., F.J., M.V.), Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany; Department of Neurology and Clinical Neurophysiology (R.A.K.), St. Marien-Hospital Borken, Borken, Germany; Department of Molecular Cell Biology (Y.L., Z.O., P.F.M.V., D.O.F.), Institute for Cell Biology, University of Bonn, Bonn, Germany; Department of Neurology (B.S.), DKD HELIOS Klinik Wiesbaden, Wiesbaden, Germany; Department of Structural and Computational Biology (J.K., A.O., K.D.-C.), Max Perutz Laboratories, University of Vienna, Vienna, Austria; Medizinisches Proteom-Center (B.E., K.M.), Ruhr-University Bochum, Bochum, Germany; Institute of Human Genetics (W.K.), University of Würzburg, Würzburg, Germany; and Department of Biochemistry (K.D.-C.), Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.
Adekunle OnipeDepartment of Neurology (R.A.K., H.Z., D.S., A.K.G., F.J., M.V.), Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany; Department of Neurology and Clinical Neurophysiology (R.A.K.), St. Marien-Hospital Borken, Borken, Germany; Department of Molecular Cell Biology (Y.L., Z.O., P.F.M.V., D.O.F.), Institute for Cell Biology, University of Bonn, Bonn, Germany; Department of Neurology (B.S.), DKD HELIOS Klinik Wiesbaden, Wiesbaden, Germany; Department of Structural and Computational Biology (J.K., A.O., K.D.-C.), Max Perutz Laboratories, University of Vienna, Vienna, Austria; Medizinisches Proteom-Center (B.E., K.M.), Ruhr-University Bochum, Bochum, Germany; Institute of Human Genetics (W.K.), University of Würzburg, Würzburg, Germany; and Department of Biochemistry (K.D.-C.), Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.
Dominik SellungDepartment of Neurology (R.A.K., H.Z., D.S., A.K.G., F.J., M.V.), Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany; Department of Neurology and Clinical Neurophysiology (R.A.K.), St. Marien-Hospital Borken, Borken, Germany; Department of Molecular Cell Biology (Y.L., Z.O., P.F.M.V., D.O.F.), Institute for Cell Biology, University of Bonn, Bonn, Germany; Department of Neurology (B.S.), DKD HELIOS Klinik Wiesbaden, Wiesbaden, Germany; Department of Structural and Computational Biology (J.K., A.O., K.D.-C.), Max Perutz Laboratories, University of Vienna, Vienna, Austria; Medizinisches Proteom-Center (B.E., K.M.), Ruhr-University Bochum, Bochum, Germany; Institute of Human Genetics (W.K.), University of Würzburg, Würzburg, Germany; and Department of Biochemistry (K.D.-C.), Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.
Anne Katrin GüttschesDepartment of Neurology (R.A.K., H.Z., D.S., A.K.G., F.J., M.V.), Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany; Department of Neurology and Clinical Neurophysiology (R.A.K.), St. Marien-Hospital Borken, Borken, Germany; Department of Molecular Cell Biology (Y.L., Z.O., P.F.M.V., D.O.F.), Institute for Cell Biology, University of Bonn, Bonn, Germany; Department of Neurology (B.S.), DKD HELIOS Klinik Wiesbaden, Wiesbaden, Germany; Department of Structural and Computational Biology (J.K., A.O., K.D.-C.), Max Perutz Laboratories, University of Vienna, Vienna, Austria; Medizinisches Proteom-Center (B.E., K.M.), Ruhr-University Bochum, Bochum, Germany; Institute of Human Genetics (W.K.), University of Würzburg, Würzburg, Germany; and Department of Biochemistry (K.D.-C.), Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.
Britta EggersDepartment of Neurology (R.A.K., H.Z., D.S., A.K.G., F.J., M.V.), Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany; Department of Neurology and Clinical Neurophysiology (R.A.K.), St. Marien-Hospital Borken, Borken, Germany; Department of Molecular Cell Biology (Y.L., Z.O., P.F.M.V., D.O.F.), Institute for Cell Biology, University of Bonn, Bonn, Germany; Department of Neurology (B.S.), DKD HELIOS Klinik Wiesbaden, Wiesbaden, Germany; Department of Structural and Computational Biology (J.K., A.O., K.D.-C.), Max Perutz Laboratories, University of Vienna, Vienna, Austria; Medizinisches Proteom-Center (B.E., K.M.), Ruhr-University Bochum, Bochum, Germany; Institute of Human Genetics (W.K.), University of Würzburg, Würzburg, Germany; and Department of Biochemistry (K.D.-C.), Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.
Frank JacobsenDepartment of Neurology (R.A.K., H.Z., D.S., A.K.G., F.J., M.V.), Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany; Department of Neurology and Clinical Neurophysiology (R.A.K.), St. Marien-Hospital Borken, Borken, Germany; Department of Molecular Cell Biology (Y.L., Z.O., P.F.M.V., D.O.F.), Institute for Cell Biology, University of Bonn, Bonn, Germany; Department of Neurology (B.S.), DKD HELIOS Klinik Wiesbaden, Wiesbaden, Germany; Department of Structural and Computational Biology (J.K., A.O., K.D.-C.), Max Perutz Laboratories, University of Vienna, Vienna, Austria; Medizinisches Proteom-Center (B.E., K.M.), Ruhr-University Bochum, Bochum, Germany; Institute of Human Genetics (W.K.), University of Würzburg, Würzburg, Germany; and Department of Biochemistry (K.D.-C.), Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.
Wolfram KressDepartment of Neurology (R.A.K., H.Z., D.S., A.K.G., F.J., M.V.), Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany; Department of Neurology and Clinical Neurophysiology (R.A.K.), St. Marien-Hospital Borken, Borken, Germany; Department of Molecular Cell Biology (Y.L., Z.O., P.F.M.V., D.O.F.), Institute for Cell Biology, University of Bonn, Bonn, Germany; Department of Neurology (B.S.), DKD HELIOS Klinik Wiesbaden, Wiesbaden, Germany; Department of Structural and Computational Biology (J.K., A.O., K.D.-C.), Max Perutz Laboratories, University of Vienna, Vienna, Austria; Medizinisches Proteom-Center (B.E., K.M.), Ruhr-University Bochum, Bochum, Germany; Institute of Human Genetics (W.K.), University of Würzburg, Würzburg, Germany; and Department of Biochemistry (K.D.-C.), Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.
Katrin MarcusDepartment of Neurology (R.A.K., H.Z., D.S., A.K.G., F.J., M.V.), Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany; Department of Neurology and Clinical Neurophysiology (R.A.K.), St. Marien-Hospital Borken, Borken, Germany; Department of Molecular Cell Biology (Y.L., Z.O., P.F.M.V., D.O.F.), Institute for Cell Biology, University of Bonn, Bonn, Germany; Department of Neurology (B.S.), DKD HELIOS Klinik Wiesbaden, Wiesbaden, Germany; Department of Structural and Computational Biology (J.K., A.O., K.D.-C.), Max Perutz Laboratories, University of Vienna, Vienna, Austria; Medizinisches Proteom-Center (B.E., K.M.), Ruhr-University Bochum, Bochum, Germany; Institute of Human Genetics (W.K.), University of Würzburg, Würzburg, Germany; and Department of Biochemistry (K.D.-C.), Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.
Kristina Djinovic-CarugoDepartment of Neurology (R.A.K., H.Z., D.S., A.K.G., F.J., M.V.), Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany; Department of Neurology and Clinical Neurophysiology (R.A.K.), St. Marien-Hospital Borken, Borken, Germany; Department of Molecular Cell Biology (Y.L., Z.O., P.F.M.V., D.O.F.), Institute for Cell Biology, University of Bonn, Bonn, Germany; Department of Neurology (B.S.), DKD HELIOS Klinik Wiesbaden, Wiesbaden, Germany; Department of Structural and Computational Biology (J.K., A.O., K.D.-C.), Max Perutz Laboratories, University of Vienna, Vienna, Austria; Medizinisches Proteom-Center (B.E., K.M.), Ruhr-University Bochum, Bochum, Germany; Institute of Human Genetics (W.K.), University of Würzburg, Würzburg, Germany; and Department of Biochemistry (K.D.-C.), Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.ORCID 0000-0003-0252-2972
Peter F M van der VenDepartment of Neurology (R.A.K., H.Z., D.S., A.K.G., F.J., M.V.), Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany; Department of Neurology and Clinical Neurophysiology (R.A.K.), St. Marien-Hospital Borken, Borken, Germany; Department of Molecular Cell Biology (Y.L., Z.O., P.F.M.V., D.O.F.), Institute for Cell Biology, University of Bonn, Bonn, Germany; Department of Neurology (B.S.), DKD HELIOS Klinik Wiesbaden, Wiesbaden, Germany; Department of Structural and Computational Biology (J.K., A.O., K.D.-C.), Max Perutz Laboratories, University of Vienna, Vienna, Austria; Medizinisches Proteom-Center (B.E., K.M.), Ruhr-University Bochum, Bochum, Germany; Institute of Human Genetics (W.K.), University of Würzburg, Würzburg, Germany; and Department of Biochemistry (K.D.-C.), Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.ORCID 0000-0002-9750-8913
Dieter O FürstDepartment of Neurology (R.A.K., H.Z., D.S., A.K.G., F.J., M.V.), Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany; Department of Neurology and Clinical Neurophysiology (R.A.K.), St. Marien-Hospital Borken, Borken, Germany; Department of Molecular Cell Biology (Y.L., Z.O., P.F.M.V., D.O.F.), Institute for Cell Biology, University of Bonn, Bonn, Germany; Department of Neurology (B.S.), DKD HELIOS Klinik Wiesbaden, Wiesbaden, Germany; Department of Structural and Computational Biology (J.K., A.O., K.D.-C.), Max Perutz Laboratories, University of Vienna, Vienna, Austria; Medizinisches Proteom-Center (B.E., K.M.), Ruhr-University Bochum, Bochum, Germany; Institute of Human Genetics (W.K.), University of Würzburg, Würzburg, Germany; and Department of Biochemistry (K.D.-C.), Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.
Matthias VorgerdDepartment of Neurology (R.A.K., H.Z., D.S., A.K.G., F.J., M.V.), Heimer Institute for Muscle Research, University Hospital Bergmannsheil, Ruhr-University Bochum, Bochum, Germany; Department of Neurology and Clinical Neurophysiology (R.A.K.), St. Marien-Hospital Borken, Borken, Germany; Department of Molecular Cell Biology (Y.L., Z.O., P.F.M.V., D.O.F.), Institute for Cell Biology, University of Bonn, Bonn, Germany; Department of Neurology (B.S.), DKD HELIOS Klinik Wiesbaden, Wiesbaden, Germany; Department of Structural and Computational Biology (J.K., A.O., K.D.-C.), Max Perutz Laboratories, University of Vienna, Vienna, Austria; Medizinisches Proteom-Center (B.E., K.M.), Ruhr-University Bochum, Bochum, Germany; Institute of Human Genetics (W.K.), University of Würzburg, Würzburg, Germany; and Department of Biochemistry (K.D.-C.), Faculty of Chemistry and Chemical Technology, University of Ljubljana, Ljubljana, Slovenia.
University of Vienna · AT
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo determine whether a new indel mutation in the dimerization domain of filamin C (FLNc) causes a hereditary myopathy with protein aggregation in muscle fibers, we clinically and molecularly studied a German family with autosomal dominant myofibrillar myopathy (MFM).
methodsWe performed mutational analysis in 3 generations, muscle histopathology, and proteomic studies of IM protein aggregates. Functional consequences of the
resultsEight patients revealed clinical features of slowly progressive proximal weakness associated with a heterozygous c.8025_8030delCAAGACinsA (p.K2676Pfs*3) mutation in
conclusionsThis new MFM-filaminopathy family confirms that expression of mutant
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